Michael P. Epstein

This paper introduces VC-TWAS, a novel variance-component TWAS method that improves power for studying complex diseases like Alzheimer's dementia by relaxing assumptions about genetic effects.

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

The paper investigates genetic differences between bilateral and unilateral cleft lip and palate subtypes using genome-wide association studies and finds distinct genetic architectures.

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

This study identifies DNA methylation loci associated with late-life depression in brain tissue, highlighting sex-specific differences.

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

This paper introduces a new rare-variant association test that incorporates family history information, showing improved performance over standard methods in simulated data and a study of cleft lip and palate.

This study examines neuropsychiatric phenotypes in individuals with 3q29 deletion syndrome, finding higher ASD prevalence, especially in females, and distinct ASD features compared to idiopathic ASD.

The paper introduces a Bayesian method for transcriptomic data imputation that improves gene mapping of complex traits by enhancing imputation accuracy and TWAS power over existing tools.

This paper introduces a method to improve genetic association testing for psychiatric symptoms by analyzing multivariate questionnaire data instead of collapsing it into a single score, showing increased power and efficiency.

This study creates a CRISPR-engineered mouse model of the 3q29 deletion, showing behavioral and growth deficits, and demonstrates that these effects are not solely due to Dlg1 haploinsufficiency.